ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355834
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000205555
RCV000218923
RCV001778794
ClinVar Variation:
220272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn504Ser
CA349700
NM_000051.4:c.1511A>G